Human Phenotype Ontology 
Grandparent Node:
expandPhenotypic abnormality (HP:0000118)help
Parent Node:
expandAbnormality of the endocrine system (HP:0000818)help
..Starting node
..expandAbnormality of the pineal gland (HP:0012680)help
Term ID: 12680
Name: Abnormality of the pineal gland
Synonym:
Definition: An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.
Comments:
Reference: HP:0012680
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of pineal morphology (HP:0012681) help
................... HP:0012682 Pineal gland calcification
................... HP:0012683 Pineal cyst
................... HP:0012684 Abnormal pineal volume
................... HP:0012687 Agenesis of pineal gland
........expandAbnormality of pineal physiology (HP:0012688) help
................... HP:0012689 Abnormal pineal melatonin secretion

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandAbnormality of renin-angiotensin system (HP:0000847) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the thyroid gland (HP:0000820) help
..expandDiabetes insipidus (HP:0000873) help
..expandDiabetes mellitus (HP:0000819) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012680HP:0012680Abnormality of the pineal gland0 CL E G H
HP:0012680HP:0012681Abnormal pineal morphology1 CL E G H
HP:0012680HP:0012688Abnormality of pineal physiology1 CL E G H
HP:0012680HP:0012682Pineal gland calcification2 CL E G H
HP:0012680HP:0012684Abnormal pineal volume2 CL E G H
HP:0012680HP:0012683Pineal cyst2 CL E G H
HP:0012680HP:0012687Agenesis of pineal gland2 CL E G H
HP:0012680HP:0012689Abnormal pineal melatonin secretion2 CL E G H
HP:0012680HP:0012685Decreased pineal volume3 CL E G H
HP:0012680HP:0012686Increased pineal volume3 CL E G H


Genes (4) :BPTF PNPLA2 PSMD12 VAX1

Diseases (4) :529962 98908 617516 614402
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.